학술논문
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'학술논문'
에서 검색결과 263건 | 목록
1~20
Academic Journal
Clara Houdayer; A. Marie Phillips; Marie Chabbert; Jennifer Bourreau; Reza Maroofian; Henry Houlden; Kay Richards; Nebal Waill Saadi; Eliška Dad'ová; Patrick Van Bogaert; Mailys Rupin; Boris Keren; Perrine Charles; Thomas Smol; Audrey Riquet; Lynn Pais; Anne O'Donnell‐Luria; Grace E. VanNoy; Allan Bayat; Rikke S Møller; Kern Olofsson; Rami Abou Jamra; Steffen Syrbe; Majed Dasouki; Laurie H. Seaver; Jennifer A. Sullivan; Vandana Shashi; Fowzan S. Alkuraya; Alexis F. Poss; J. Edward Spence; Rhonda E. Schnur; Ian C. Forster; Chaseley E. Mckenzie; Cas Simons; Min Wang; Penny Snell; Kavitha Kothur; Michael Buckley; Tony Roscioli; Noha Elserafy; Benjamin Dauriat; Vincent Procaccio; Daniel Henrion; Guy Lenaers; Estelle Colin; Nienke E. Verbeek; Koen L. Van Gassen; Claire Legendre; Dominique Bonneau; Christopher A. Reid; Katherine B. Howell; Alban Ziegler; Christian Legros
Ann Neurol
Academic Journal
Marlène Malbos; Gabriella Vera; Harsh Sheth; Rhonda E. Schnur; Aurélien Juven; Anne‐Claire Brehin; Jayesh Sheth; Ajit Gandhi; Faye L. Shapiro; Ange‐Line Bruel; Florent Marguet; Amber Begtrup; Kristin G. Monaghan; Hana Safraou; Marie Brasseur‐Daudruy; Frédéric Tran Mau‐Them; Yannis Duffourd; Laurence Faivre; Christel Thauvin‐Robinet; Paul J. Benke; Christophe Philippe
Clinical Genetics. 106:757-763
Academic Journal
Rhonda E, Schnur; Lukáš, Dvořáček; Louisa, Kalsner; Faye L, Shapiro; Dana, Grebeňová; Diana, Yanni; Barry N, Wasserman; Lisa M, Dyer; Stylianos E, Antonarakis; Kateřina, Kuželová
Clinical Genetics. 106:518-524
Academic Journal
Elisa Calì; Mohnish Suri; Marcello Scala; Matteo P. Ferla; Shahryar Alavi; Eissa Faqeih; Emilia K. Bijlsma; Kristen Wigby; Diana Baralle; Mohammad Yahya Vahidi Mehrjardi; Jennifer Schwab; Konrad Platzer; Katharina Steindl; Mais Hashem; Marilyn C. Jones; Dmitriy Niyazov; Jennifer Jacober; Rebecca O. Littlejohn; Denisa Weis; Neda Zadeh; Lance H. Rodan; Alice Goldenberg; François Lecoquierre; Marina Dutra‐Clarke; Gabriella Horváth; Dana Young; Naama Orenstein; Shahad Bawazeer; Anneke T. Vulto‐van Silfhout; Yvan Herenger; Mohammadreza Dehghani; Seyed Mohammad Seyedhassani; Amir Bahreini; Mahya Ebrahimi Nasab; A. Gulhan Ercan‐Sencicek; Zahra Firoozfar; Mojtaba Movahedinia; Stéphanie Efthymiou; Pasquale Striano; Ehsan Ghayoor Karimiani; Vincenzo Salpietro; Jenny C. Taylor; Melody Redman; Alexander P.A. Stegmann; Andreas Laner; Ghada M.H. Abdel‐Salam; Megan Li; Mario Bengala; Amelie J. Müller; María Cristina Digilio; Anita Rauch; Murat Günel; Hannah Titheradge; Daniela N. Schweitzer; Alison Kraus; Irene Valenzuela; Scott McLean; Chanika Phornphutkul; Mustafa A. Salih; Amber Begtrup; Rhonda E. Schnur; Erin Torti; Tobias B. Haack; Carlos E. Prada; Fowzan S. Alkuraya; Henry Houlden; Reza Maroofian
Genet Med
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Genetics in Medicine, 25, 1, pp. 135-142
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Genetics in Medicine, 25, 1, pp. 135-142
Academic Journal
Shepherdson, James L. ; Hutchison, Katie ; Don, Dilan Wellalage ; McGillivray, George ; Choi, Tae-Ik ; Allan, Carolyn A. ; Amor, David J. ; Banka, Siddharth ; Basel, Donald G. ; Buch, Laura D. ; Carere, Deanna Alexis ; Carroll, Renée ; Clayton-Smith, Jill ; Crawford, Ali ; Dunø, Morten ; Faivre, Laurence ; Gilfillan, Christopher P. ; Gold, Nina B. ; Gripp, Karen W. ; Hobson, Emma ; Holtz, Alexander M. ; Innes, A. Micheil ; Isidor, Bertrand ; Jackson, Adam ; Katsonis, Panagiotis ; Amel Riazat Kesh, Leila ; Küry, Sébastien ; Lecoquierre, François ; Lockhart, Paul ; Maraval, Julien ; Matsumoto, Naomichi ; McCarrier, Julie ; McCarthy, Josephine ; Miyake, Noriko ; Moey, Lip Hen ; Németh, Andrea H. ; Østergaard, Elsebet ; Patel, Rushina ; Pope, Kate ; Posey, Jennifer E. ; Schnur, Rhonda E. ; Shaw, Marie ; Stolerman, Elliot ; Taylor, Julie P. ; Wadman, Erin ; Wakeling, Emma ; White, Susan M. ; Wong, Lawrence C. ; Lupski, James R. ; Lichtarge, Olivier ; Corbett, Mark A. ; Gecz, Jozef ; Nicolet, Charles M. ; Farnham, Peggy J. ; Kim, Cheol-Hee ; Shinawi, Marwan
In The American Journal of Human Genetics 7 March 2024 111(3):487-508
Academic Journal
Natalie Ahmad; Walid Fazeli; Sophia Schließke; Gaetan Lesca; Zeynep Gokce-Samar; Kedous Y. Mekbib; Sheng Chih Jin; Jennifer Burton; George Hoganson; Andrea Petersen; Sara Gracie; Leslie Granger; Enrika Bartels; Henry Oppermann; Adam Kundishora; Marianne Till; Clara Milleret-Pignot; Shane Dangerfield; David Viskochil; Katherine J. Anderson; Timothy Blake Palculict; Rhonda E. Schnur; Ingrid M. Wentzensen; George E. Tiller; Kristopher T. Kahle; Wolfram S. Kunz; Sebastian Burkart; Matias Simons; Heinrich Sticht; Rami Abou Jamra; Sonja Neuser
Pediatric Neurology. 148:164-171
Academic Journal
Ahmad, Natalie; Fazeli, Walid, MD; Schließke, Sophia; Lesca, Gaetan; Gokce-Samar, Zeynep, MD; Mekbib, Kedous Y., BSc; Jin, Sheng Chih; Burton, Jennifer, MSc, CGC; Hoganson, George, MD; Petersen, Andrea, MD; Gracie, Sara, MSc, CGC; Granger, Leslie, MSc, CGC; Bartels, Enrika, MD; Oppermann, Henry; Kundishora, Adam; Till, Marianne; Milleret-Pignot, Clara; Dangerfield, Shane; Viskochil, David; Anderson, Katherine J., MD; Palculict, Timothy Blake; Schnur, Rhonda E.; Wentzensen, Ingrid M.; Tiller, George E., MD, PhD; Kahle, Kristopher T., MD, PhD; Kunz, Wolfram S., PhD; Burkart, Sebastian; Simons, Matias; Sticht, Heinrich, PhD; Abou Jamra, Rami, MD; Neuser, Sonja, MD
Pediatric Neurology. 148:164-171
Academic Journal
An N. Dang Do; Irene J. Chang; Xutian Jiang; Lynne A. Wolfe; Bobby G. Ng; Christina Lam; Rhonda E. Schnur; Katrina Allis; Hana Hansikova; Nina Ondruskova; Shawn D. O'Connor; Amarilis Sanchez‐Valle; Arve Vollo; Raymond Y. Wang; Zoe Wolfenson; John Perreault; Daniel S. Ory; Hudson H. Freeze; J. Lawrence Merritt; Forbes D. Porter
Journal of Inherited Metabolic Disease, vol 46, iss 2
Academic Journal
Maroofian, Reza ; Zamani, Mina ; Kaiyrzhanov, Rauan ; Liebmann, Lutz ; Karimiani, Ehsan Ghayoor ; Vona, Barbara ; Huebner, Antje K. ; Calame, Daniel G. ; Misra, Vinod K. ; Sadeghian, Saeid ; Azizimalamiri, Reza ; Mohammadi, Mohammad Hasan ; Zeighami, Jawaher ; Heydaran, Sogand ; Toosi, Mehran Beiraghi ; Akhondian, Javad ; Babaei, Meisam ; Hashemi, Narges ; Schnur, Rhonda E. ; Suri, Mohnish ; Setzke, Jonas ; Wagner, Matias ; Brunet, Theresa ; Grochowski, Christopher M. ; Emrick, Lisa ; Chung, Wendy K. ; Hellmich, Ute A. ; Schmidts, Miriam ; Lupski, James R. ; Galehdari, Hamid ; Severino, Mariasavina ; Houlden, Henry ; Hübner, Christian A.
In Genetics in Medicine March 2024 26(3)
Academic Journal
Yoeri Sleyp; Irene Valenzuela; Andrea Accogli; Katleen Ballon; Bruria Ben-Zeev; Samuel F. Berkovic; Martin Broly; Patrick Callaerts; Raymond C. Caylor; Perrine Charles; Nicolas Chatron; Lior Cohen; Antonietta Coppola; Dawn Cordeiro; Claudia Cuccurullo; Ivon Cuscó; null Janette diMonda; Ramon Duran-Romaña; Nina Ekhilevitch; Paula Fernández-Alvarez; Christopher T. Gordon; Bertrand Isidor; Boris Keren; Gaetan Lesca; Jarymke Maljaars; Saadet Mercimek-Andrews; Michelle M. Morrow; Alison M. Muir; Frederic Rousseau; Vincenzo Salpietro; Ingrid E. Scheffer; Rhonda E. Schnur; Joost Schymkowitz; Erika Souche; Jean Steyaert; Elliot S. Stolerman; Jaime Vengoechea; Dorothée Ville; Camerun Washington; Karin Weiss; Rinat Zaid; Lynette G. Sadleir; Heather C. Mefford; Hilde Peeters
Genetics in Medicine. 24:2464-2474
Academic Journal
Michelle, Adutwum; Anna, Hurst; Ghayda, Mirzaa; Jessica D, Kushner; Caleb, Rogers; Nahla, Khalek; Ana G, Cristancho; Natalie, Burrill; Michael E, Seifert; Maria I, Scarano; Rhonda E, Schnur; Anne, Slavotinek
Clinical Genetics. 103:97-102
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay
Academic Journal
Thoa Ha; Angela Morgan; Meghan N. Bartos; Katelyn Beatty; Benjamin Cogné; Dominique Braun; Céline B. Gerber; Harald Gaspar; Anna M. Kopps; Claudine Rieubland; Anna C. E. Hurst; David J. Amor; Mathilde Nizon; Laurent Pasquier; Rolph Pfundt; André Reis; Victoria Mok Siu; Marine Tessarech; Michelle L. Thompson; Marie Vincent; Bert B. A. de Vries; Matthew B. Walsh; Stephanie Burns Wechsler; Christiane Zweier; Rhonda E. Schnur; Maria J. Guillen Sacoto; Henri Margot; Barbara Masotto; Maria Irene Valenzuela Palafoll; Urwah Nawaz; Irina Voineagu; Anne Slavotinek
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
American Journal of Medical Genetics. Part A, 194, 7, pp. e63559
Ha, Thoa; Morgan, Angela; Bartos, Meghan N; Beatty, Katelyn; Cogné, Benjamin; Braun, Dominique; Gerber, Céline B; Gaspar, Harald; Kopps, Anna M; Rieubland, Claudine; Hurst, Anna CE ; Amor, David J; Nizon, Mathilde; Pasquier, Laurent; Pfundt, Rolph; Reis, André; Siu, Victoria Mok; Tessarech, Marine; Thompson, Michelle L; Vincent, Marie; ... (2024). De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay. American journal of medical genetics. Part A, 194(7), e63559. Wiley-Liss 10.1002/ajmg.a.63559
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
American Journal of Medical Genetics. Part A, 194, 7, pp. e63559
Ha, Thoa; Morgan, Angela; Bartos, Meghan N; Beatty, Katelyn; Cogné, Benjamin; Braun, Dominique; Gerber, Céline B; Gaspar, Harald; Kopps, Anna M; Rieubland, Claudine; Hurst, Anna C
Academic Journal
Lauren O'Grady; Samantha A. Schrier Vergano; Trevor L. Hoffman; Dean Sarco; Sara Cherny; Emily Bryant; Laura Schultz‐Rogers; Wendy K. Chung; Stephanie Sacharow; Ladonna L. Immken; Susan Holder; Rebecca R. Blackwell; Catherine Buchanan; Roman Yusupov; François Lecoquierre; Anne‐Marie Guerrot; Lance Rodan; Bert B. A. de Vries; Erik Jan Kamsteeg; Fernando Santos Simarro; Maria Palomares‐Bralo; Natasha Brown; Lynn Pais; Alejandro Ferrer; Eric W. Klee; Dusica Babovic‐Vuksanovic; Lindsay Rhodes; Richard Person; Amber Begtrup; Jennifer Keller‐Ramey; Teresa Santiago‐Sim; Rhonda E. Schnur; David A. Sweetser; Nina B. Gold
American Journal of Medical Genetics. Part A, 188, 9, pp. 2750-2759
Academic Journal
Daniel G, Calame; Somayeh, Bakhtiari; Rachel, Logan; Zeynep, Coban-Akdemir; Haowei, Du; Tadahiro, Mitani; Jawid M, Fatih; Jill V, Hunter; Isabella, Herman; Davut, Pehlivan; Shalini N, Jhangiani; Richard, Person; Rhonda E, Schnur; Sheng Chih, Jin; Kaya, Bilguvar; Jennifer E, Posey; Sookyong, Koh; Saghar G, Firouzabadi; Elham, Alehabib; Abbas, Tafakhori; Sahra, Esmkhani; Richard A, Gibbs; Mahmoud M, Noureldeen; Maha S, Zaki; Dana, Marafi; Hossein, Darvish; Michael C, Kruer; James R, Lupski
Genetics in Medicine. 23:2455-2460
Academic Journal
Gabriel C. Dworschak; Jaya Punetha; Jeshurun C. Kalanithy; Enrico Mingardo; Haktan Bağış Erdem; Zeynep Coban‐Akdemir; Ender Karaca; Tadahiro Mitani; Dana Marafi; Jawid M. Fatih; Shalini N. Jhangiani; Jill V. Hunter; Tikam Chand Dakal; Bhanupriya Dhabhai; Omar Dabbagh; Hessa S. Alsaif; Fowzan S. Alkuraya; Reza Maroofian; Henry Houlden; Stéphanie Efthymiou; Natalia Dominik; Vincenzo Salpietro; Tipu Sultan; Shahzad Haider; Farah Bibi; Holger Thiele; Julia Hoefele; Korbinian M. Riedhammer; Matias Wagner; Ilaria Guella; Michelle Demos; Boris Keren; Julien Buratti; Perrine Charles; Caroline Nava; Stéphanie Baulac; Solveig Heide; Elise Valkanas; Leigh B. Waddell; Kristi Jones; Emily Oates; Sandra T. Cooper; Daniel G. MacArthur; Steffen Syrbe; Andreas Ziegler; Konrad Platzer; Volkan Okur; Wendy K. Chung; Sarah A. O'Shea; Matthew Surface; Stanley Fahn; Paul R. Mark; Renzo Guerrini; Annalisa Vetro; Beth Hudson; Rhonda E. Schnur; George Hoganson; Jennifer Burton; Meriel McEntagart; Tobias Lindenberg; Ömer Yılmaz; Benjamin Odermatt; Davut Pehli̇van; Jennifer E. Posey; James R. Lupski; Heiko Reutter
Genet Med
Genet. Med. 23, 1715–1725 (2021)
Genet. Med. 23, 1715–1725 (2021)
Academic Journal
Rhonda E. Schnur; Sairah Yousaf; James Liu; Wendy K. Chung; Lindsay Rhodes; Michael Marble; Regina M. Zambrano; Nara Sobreira; Parul Jayakar; Mary Ella Pierpont; Matthew J. Schultz; Pavel N. Pichurin; Rory J. Olson; Gail E. Graham; Matthew Osmond; Gustavo A. Contreras-García; Karina A. Campo-Neira; Camilo A. Peñaloza-Mantilla; Mark Flage; Srikar Kuppa; Karina Navarro; Maria J. Guillen Sacoto; Ingrid M. Wentzensen; Maria I. Scarano; Jane Juusola; Carlos E. Prada; Robert B. Hufnagel
Genet Med
Academic Journal
Alison M. Muir; Jennifer F. Gardner; Richard H. van Jaarsveld; Iris M. de Lange; Jasper J. van der Smagt; Golder N. Wilson; Holly Dubbs; Ethan M. Goldberg; Lia Zitano; Caleb Bupp; Jose Martinez; Myriam Srour; Andrea Accogli; Afnan Alhakeem; Meira Meltzer; Andrea Gropman; Carole Brewer; Richard C. Caswell; Tara Montgomery; Caoimhe McKenna; Shane McKee; Corinna Powell; Pradeep C. Vasudevan; Angela F. Brady; Shelagh Joss; Carolyn Tysoe; Grace Noh; Mark Tarnopolsky; Lauren Brady; Muhammad Zafar; Samantha A. Schrier Vergano; Brianna Murray; Lindsey Sawyer; Bryan E. Hainline; Katherine Sapp; Danielle DeMarzo; Darcy J. Huismann; Ingrid M. Wentzensen; Rhonda E. Schnur; Kristin G. Monaghan; Jane Juusola; Lindsay Rhodes; William B. Dobyns; Francois Lecoquierre; Alice Goldenberg; Tilman Polster; Susanne Axer-Schaefer; Konrad Platzer; Chiara Klöckner; Trevor L. Hoffman; Daniel G. MacArthur; Melanie C. O’Leary; Grace E. VanNoy; Eleina England; Vinod C. Varghese; Heather C. Mefford
Genet Med
Academic Journal
Renkui, Bai; Hong, Cui; Joseph M, Devaney; Katrina M, Allis; Amanda M, Balog; Xinyue, Liu; Rhonda E, Schnur; Faye L, Shapiro; Ariel, Brautbar; Juvianee I, Estrada-Veras; Laurel, Hochstetler; Allyn, McConkie-Rosell; Marie T, McDonald; Benjamin D, Solomon; Sean, Hofherr; Gabriele, Richard; Sharon F, Suchy
Genetics in Medicine. 23:1514-1521
Academic Journal
Voisin, Norine ; Schnur, Rhonda E. ; Douzgou, Sofia ; Hiatt, Susan M. ; Rustad, Cecilie F. ; Brown, Natasha J. ; Earl, Dawn L. ; Keren, Boris ; Levchenko, Olga ; Geuer, Sinje ; Verheyen, Sarah ; Johnson, Diana ; Zarate, Yuri A. ; Hančárová, Miroslava ; Amor, David J. ; Bebin, E. Martina ; Blatterer, Jasmin ; Brusco, Alfredo ; Cappuccio, Gerarda ; Charrow, Joel ; Chatron, Nicolas ; Cooper, Gregory M. ; Courtin, Thomas ; Dadali, Elena ; Delafontaine, Julien ; Del Giudice, Ennio ; Doco, Martine ; Douglas, Ganka ; Eisenkölbl, Astrid ; Funari, Tara ; Giannuzzi, Giuliana ; Gruber-Sedlmayr, Ursula ; Guex, Nicolas ; Heron, Delphine ; Holla, Øystein L. ; Hurst, Anna C.E. ; Juusola, Jane ; Kronn, David ; Lavrov, Alexander ; Lee, Crystle ; Lorrain, Séverine ; Merckoll, Else ; Mikhaleva, Anna ; Norman, Jennifer ; Pradervand, Sylvain ; Prchalová, Darina ; Rhodes, Lindsay ; Sanders, Victoria R. ; Sedláček, Zdeněk ; Seebacher, Heidelis A. ; Sellars, Elizabeth A. ; Sirchia, Fabio ; Takenouchi, Toshiki ; Tanaka, Akemi J. ; Taska-Tench, Heidi ; Tønne, Elin ; Tveten, Kristian ; Vitiello, Giuseppina ; Vlčková, Markéta ; Uehara, Tomoko ; Nava, Caroline ; Yalcin, Binnaz ; Kosaki, Kenjiro ; Donnai, Dian ; Mundlos, Stefan ; Brunetti-Pierri, Nicola ; Chung, Wendy K. ; Reymond, Alexandre
In The American Journal of Human Genetics 6 May 2021 108(5):857-873
Academic Journal
Lot Snijders Blok; Arianna Vino; Joery den Hoed; Hunter R. Underhill; Danielle Monteil; Hong Li; Francis Jeshira Reynoso Santos; Wendy K. Chung; Michelle D. Amaral; Rhonda E. Schnur; Teresa Santiago-Sim; Yue Si; Han G. Brunner; Tjitske Kleefstra; Simon E. Fisher
Genetics in Medicine
Genet Med
Genetics in Medicine, 23, 3, pp. 534-542
Genet Med
Genetics in Medicine, 23, 3, pp. 534-542
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[검색어] Rhonda E. Schnur
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